A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704361



Internal ID15094327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212444081..212527276hg38UCSC Ensembl
Innerchr1:212617423..212700618hg19UCSC Ensembl
Innerchr1:210684046..210767241hg18UCSC Ensembl
Innerchr1:209005818..209089013hg17UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3883196
hg1983196
hg1883196
hg1783196
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527863
Supporting Variants
Samples
Known GenesNENF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704361
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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